Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: A molecular, biochemical and clinical analysis of X-ALD cases in India

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Kumar, Neeraj ^a   Taneja, Krishna Kant ^b   Kalra, Veena ^c   Behari, Madhuri ^c   Aneja, Satinder ^d   Bansal, Surendra Kumar ^a  

^a UNIVERSITY OF DELHI   (India)

^b CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^c ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^d LADY HARDINGE MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOPLASM PROTEIN; GENOMIC DNA; PROTEIN ALDP; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCD1 PROTEIN, HUMAN;

ABCD1 GENE; ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; BIOCHEMISTRY; CAUCASIAN; CHILD; CLINICAL ARTICLE; CLINICAL OBSERVATION; CONTROLLED STUDY; DNA FLANKING REGION; ETHNICITY; EXON; FEMALE; GENE; GENE DELETION; GENE EXPRESSION PROFILING; GENE INSERTION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GEOGRAPHIC DISTRIBUTION; GERM LINE; HUMAN; HUMAN CELL; INDIA; INDIAN; INDIGENOUS PEOPLE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; POPULATION RESEARCH; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; CELL LINE; GENETICS; METABOLISM; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADRENOLEUKODYSTROPHY; ATP-BINDING CASSETTE TRANSPORTERS; BLOTTING, WESTERN; CELL LINE; CHILD; CHILD, PRESCHOOL; FEMALE; GERM-LINE MUTATION; HUMANS; INDIA; MALE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 80053091871     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025094     Document Type: Article

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